Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9BXC0

Entry ID Method Resolution Chain Position Source
AF-Q9BXC0-F1 Predicted AlphaFoldDB

337 variants for Q9BXC0

Variant ID(s) Position Change Description Diseaes Association Provenance
CA387075491
rs1566052812
2 Y>C No ClinGen
Ensembl
CA387075480
rs1295503027
3 N>K No ClinGen
TOPMed
rs1313934258
CA387075468
5 S>* No ClinGen
gnomAD
CA387075455
rs764351056
7 C>F No ClinGen
ExAC
gnomAD
CA6850064
rs764351056
7 C>S No ClinGen
ExAC
gnomAD
CA387075456
rs764351056
7 C>Y No ClinGen
ExAC
gnomAD
rs775822652
CA6850063
10 E>K No ClinGen
ExAC
gnomAD
CA6850062
rs775822652
10 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 12 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759640153
CA6850060
12 D>V No ClinGen
ExAC
CA6850058
rs776463540
13 T>I No ClinGen
ExAC
gnomAD
rs1386021339
CA387075414
14 I>V No ClinGen
gnomAD
CA6850057
rs770844915
15 S>F No ClinGen
ExAC
gnomAD
rs377701759
CA6850056
16 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 18 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244788684
rs769398132
19 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs148912167
CA6850055
20 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6850052
rs778493102
23 I>T No ClinGen
ExAC
gnomAD
rs370246528
CA6850053
23 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6850051
rs754517701
27 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA6850050
rs753319794
29 G>A No ClinGen
ExAC
gnomAD
CA387075319
rs1443458032
30 A>T No ClinGen
gnomAD
CA387075315
rs1335626530
30 A>V No ClinGen
gnomAD
rs1177458447
CA387075312
31 L>P No ClinGen
TOPMed
CA387075308
rs147267914
32 G>C No ClinGen
Ensembl
CA244788653
rs147267914
32 G>S No ClinGen
Ensembl
rs554887338
CA6850046
33 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA244788644
rs937680432
34 G>R No ClinGen
gnomAD
CA244788631
rs747662154
36 A>T No ClinGen
gnomAD
CA6850044
rs763385168
37 L>Q No ClinGen
ExAC
gnomAD
rs765515759
CA6850042
38 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs146750356
CA6850041
39 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6850040
rs776830065
40 F>I No ClinGen
ExAC
gnomAD
CA387075259
rs1219705777
40 F>L No ClinGen
gnomAD
rs773003661
CA6850037
43 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA244788599
rs35292336
VAR_025151
43 H>Q No ClinGen
UniProt
Ensembl
dbSNP
rs771878435
CA6850036
44 M>L No ClinGen
ExAC
gnomAD
rs771878435
CA387075236
44 M>V No ClinGen
ExAC
gnomAD
rs1407271224
CA387075211
47 W>* No ClinGen
gnomAD
rs1346737079
CA387075206
47 W>C No ClinGen
gnomAD
TCGA novel 47 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768236757
CA6850033
49 P>L No ClinGen
ExAC
TOPMed
CA244788587
rs913712158
49 P>S No ClinGen
Ensembl
rs779678460
CA6850031
50 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs779678460
CA387075190
50 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA387075188
rs1270575179
50 S>R No ClinGen
TOPMed
CA387075185
rs1437058324
51 T>A No ClinGen
TOPMed
CA6850030
rs755545619
53 Y>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 53 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387075157
rs1409462571
55 F>S No ClinGen
gnomAD
rs548818042
CA244788576
56 N>S No ClinGen
TOPMed
gnomAD
CA387075130
rs1455052208
59 V>A No ClinGen
TOPMed
CA6850028
rs143399382
59 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 60 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6850027
rs758865505
60 A>T No ClinGen
ExAC
gnomAD
CA6850026
rs753043002
61 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6850025
rs374992716
62 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6850024
rs138446551
63 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA6850023
rs139899793
63 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387075109
rs138446551
63 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA387075103
rs1225804823
64 L>F No ClinGen
gnomAD
CA6850022
rs766532764
65 M>I No ClinGen
ExAC
gnomAD
rs1566052669
CA387075097
65 M>K No ClinGen
Ensembl
CA244788563
rs996818327
65 M>L No ClinGen
TOPMed
gnomAD
CA387075099
rs996818327
65 M>V No ClinGen
TOPMed
gnomAD
CA387075085
rs1364203022
67 C>R No ClinGen
gnomAD
CA6850021
rs760624747
68 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs529832880
CA6850020
69 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA387075060
rs1566052653
71 R>G No ClinGen
Ensembl
CA6850018
rs767379867
71 R>P No ClinGen
ExAC
gnomAD
rs761606257
CA6850017
73 D>N No ClinGen
ExAC
gnomAD
rs774185912
CA6850016
73 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs201991947
CA6850015
74 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1428431964
CA387075044
74 Y>N No ClinGen
TOPMed
gnomAD
rs1593749094
CA387075034
75 Y>S No ClinGen
Ensembl
rs1419583235
CA387075025
76 L>P No ClinGen
gnomAD
rs147063870
CA244788511
78 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387075016
rs147063870
78 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555250087
CA387075015
78 R>H No ClinGen
Ensembl
rs147063870
CA6850014
78 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387075009
rs1463262622
79 R>T No ClinGen
gnomAD
rs1244652323
CA387074988
82 A>T No ClinGen
gnomAD
CA6850013
rs774981737
83 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs769366388
CA6850012
85 D>H No ClinGen
ExAC
rs897204638
CA244788474
86 I>T No ClinGen
TOPMed
gnomAD
CA6850011
rs745329011
87 P>L No ClinGen
ExAC
gnomAD
rs1332150557
CA387074954
87 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6850008
rs748660233
88 C>* No ClinGen
ExAC
gnomAD
CA6850009
rs759032411
88 C>F No ClinGen
ExAC
gnomAD
rs778427487
CA6850010
88 C>R No ClinGen
ExAC
gnomAD
CA244788440
rs560592243
89 R>Q No ClinGen
Ensembl
rs1046289525
CA244788405
91 G>R No ClinGen
Ensembl
CA387074914
rs1363222962
92 L>I No ClinGen
gnomAD
CA387074905
rs1317435474
92 L>R No ClinGen
gnomAD
rs1014442065
CA244788392
93 F>L No ClinGen
TOPMed
gnomAD
CA6850006
rs755277443
93 F>L No ClinGen
ExAC
gnomAD
rs1475378723
CA387074872
94 T>M No ClinGen
TOPMed
CA6850005
rs199570616
94 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387074815
rs1169113055
97 M>I No ClinGen
gnomAD
TCGA novel 100 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750448217
CA6850002
100 A>T No ClinGen
ExAC
gnomAD
rs139090131
CA6850000
101 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849999
rs139090131
101 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1443685557
CA387074725
102 S>N No ClinGen
gnomAD
rs1255873920
CA387074713
103 I>F No ClinGen
TOPMed
gnomAD
CA6849998
rs763996022
103 I>T No ClinGen
ExAC
gnomAD
rs762606041
CA6849997
105 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 106 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387074668
rs775238517
107 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA387074665
rs201584459
107 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA6849995
rs201584459
107 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA6849996
rs775238517
107 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA6849991
rs61747158
110 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6849990
rs775205075
111 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387074604
rs1297540058
112 D>G No ClinGen
gnomAD
rs749553547
CA6849987
112 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs780339620
CA6849986
114 Y>D No ClinGen
ExAC
CA387074523
rs1400666845
117 V>M No ClinGen
gnomAD
CA6849984
rs376395828
118 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 120 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849980
rs763896807
122 H>R No ClinGen
ExAC
gnomAD
CA6849979
rs762810757
123 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs762810757
CA387074410
123 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1401184280
CA387074393
124 V>L No ClinGen
TOPMed
CA6849976
rs370201170
130 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849975
rs370201170
130 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6849977
rs765077411
130 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs760225568
CA6849973
131 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 132 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387074247
rs1263910892
133 A>V No ClinGen
gnomAD
CA244788170
rs990951109
134 G>D No ClinGen
TOPMed
rs921131370
CA387074201
135 I>M No ClinGen
gnomAD
CA6849970
rs201612647
136 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201612647
CA6849971
136 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201612647
CA387074199
136 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746134682
CA6849968
138 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6849967
rs746134682
138 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs746134682
CA6849969
138 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA6849965
rs141141592
CA387074156
140 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6849964
rs751570225
141 A>T No ClinGen
ExAC
gnomAD
rs1179972604
CA387074124
142 L>M No ClinGen
TOPMed
CA6849963
rs777778061
142 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs528014925
CA244788025
143 V>A No ClinGen
1000Genomes
TOPMed
gnomAD
rs528014925
CA244788024
143 V>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs140218785
CA6849962
145 L>V No ClinGen
ESP
ExAC
gnomAD
CA387074031
rs1316320235
147 T>I No ClinGen
gnomAD
CA6849961
rs147527799
148 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387073995
rs1432155189
149 Y>* No ClinGen
gnomAD
CA387073997
rs1230385064
149 Y>F No ClinGen
TOPMed
gnomAD
rs1313214166
CA387073960
152 L>P No ClinGen
TOPMed
CA6849960
rs764991045
155 H>Y No ClinGen
ExAC
gnomAD
rs759356497
CA6849959
156 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA6849958
rs753577940
156 L>P No ClinGen
ExAC
gnomAD
CA387073878
rs1566052478
158 V>A No ClinGen
Ensembl
rs766065384
CA6849957
158 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA387073884
rs766065384
158 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA6849955
rs143221949
161 T>A No ClinGen
ExAC
gnomAD
CA387073838
rs767045751
161 T>M No ClinGen
ExAC
gnomAD
CA6849954
rs767045751
161 T>R No ClinGen
ExAC
gnomAD
CA387073824
rs1283854353
162 A>V No ClinGen
gnomAD
rs139197891
CA6849952
163 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA244787938
rs746751268
166 E>K No ClinGen
Ensembl
rs746189746
CA6849950
167 S>N No ClinGen
ExAC
gnomAD
CA6849949
rs776841344
168 F>I No ClinGen
ExAC
gnomAD
CA6849948
rs771083204
170 M>L No ClinGen
ExAC
gnomAD
CA387073703
rs1408849607
171 E>Q No ClinGen
gnomAD
rs61742326
CA387073682
172 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61742326
CA6849947
172 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1375968900
CA387073679
173 A>T No ClinGen
TOPMed
gnomAD
rs1281451599
CA387073666
174 N>D No ClinGen
TOPMed
CA244787887
rs934601804
174 N>S No ClinGen
TOPMed
rs1429328509
CA387073644
176 W>* No ClinGen
gnomAD
CA6849944
rs758483547
177 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA6849943
rs748060410
178 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387073627
rs1462512084
179 I>V No ClinGen
gnomAD
rs542483050
CA6849942
180 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs754827402
CA6849941
181 F>L No ClinGen
ExAC
gnomAD
rs925633077
CA244787840
182 Q>H No ClinGen
TOPMed
CA387073603
rs1342830881
182 Q>R No ClinGen
TOPMed
gnomAD
rs1227589448
CA387073591
184 E>A No ClinGen
gnomAD
CA387073586
rs1363935560
TCGA novel
185 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA387073577
rs1294945758
186 F>L No ClinGen
TOPMed
gnomAD
TCGA novel 187 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs978437931
CA387073566
187 M>R No ClinGen
TOPMed
gnomAD
CA244787808
rs978437931
187 M>T No ClinGen
TOPMed
gnomAD
CA387073560
rs1408782535
188 P>S No ClinGen
gnomAD
CA6849940
rs753632848
189 L>H No ClinGen
ExAC
gnomAD
CA387073550
rs1169670941
190 G>R No ClinGen
TOPMed
gnomAD
rs1169670941
CA387073551
190 G>S No ClinGen
TOPMed
gnomAD
CA6849938
rs755901720
192 I>T No ClinGen
ExAC
gnomAD
rs373412840
CA6849937
193 L>S No ClinGen
ExAC
gnomAD
rs1174229431
CA387073519
194 F>C No ClinGen
TOPMed
rs367981732
CA6849936
195 C>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387073504
rs1460326877
196 S>F No ClinGen
TOPMed
rs1297248712
CA387073476
200 V>A No ClinGen
TOPMed
rs761334856
CA6849934
202 S>N No ClinGen
ExAC
gnomAD
CA387073459
rs1275043411
202 S>R No ClinGen
gnomAD
CA6849933
rs775889828
204 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1340878877
CA387073441
204 R>S No ClinGen
gnomAD
CA6849931
rs759905684
205 R>Q No ClinGen
ExAC
gnomAD
rs765663615
CA6849932
205 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA387073400
rs201727220
207 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA6849930
rs777037364
207 Q>R No ClinGen
ExAC
gnomAD
CA387073394
rs1447783053
208 Q>* No ClinGen
gnomAD
CA244787702
rs758281047
209 L>R No ClinGen
TOPMed
rs750390654
CA6849927
210 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs750390654
CA6849926
210 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs960880928
CA244787686
211 R>* No ClinGen
TOPMed
rs748194436
CA6849925
212 Q>R No ClinGen
ExAC
gnomAD
rs149599946
CA387073318
214 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849923
rs201961889
214 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201961889
CA244787676
214 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201961889
CA6849922
214 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149599946
CA6849924
214 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387073308
rs1593748700
215 M>V No ClinGen
Ensembl
CA6849920
rs780031221
216 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs755911344
CA6849919
218 A>E No ClinGen
ExAC
gnomAD
rs755911344
CA387073252
218 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1593748690
CA387073245
219 T>P No ClinGen
Ensembl
CA6849916
rs1162370626
219 T>S No ClinGen
gnomAD
CA6849914
rs372254985
220 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387073229
rs751023135
220 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6849913
rs751023135
220 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 221 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1593748677
CA387073221
221 F>V No ClinGen
Ensembl
rs368288293
CA387073192
CA6849912
223 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244787595
rs945066304
223 M>T No ClinGen
Ensembl
CA387073163
rs1593748669
224 V>G No ClinGen
Ensembl
CA6849910
rs754320989
225 V>L No ClinGen
ExAC
gnomAD
rs892344961
CA244787586
226 A>T No ClinGen
TOPMed
gnomAD
CA244787575
rs369713712
227 I>T No ClinGen
Ensembl
rs1162407602
CA387073136
227 I>V No ClinGen
TOPMed
rs1288712410
CA387073122
228 V>L No ClinGen
gnomAD
CA387073084
rs1281691888
230 I>S No ClinGen
gnomAD
rs761061194
CA6849908
230 I>V No ClinGen
ExAC
gnomAD
CA387073040
rs1370292081
233 Y>* No ClinGen
TOPMed
CA6849906
rs558552970
233 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138206647
CA244787514
233 Y>H No ClinGen
ESP
TOPMed
gnomAD
rs558552970
CA387073045
233 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387073019
rs375870381
235 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849905
rs375870381
235 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387072999
rs149768068
236 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6849903
rs371072988
237 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377541263
CA6849901
240 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140482291
CA6849900
241 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1409685905
CA387072933
242 Y>H No ClinGen
gnomAD
CA387072888
rs1200879237
245 W>R No ClinGen
gnomAD
CA387072882
rs1488541809
245 W>S No ClinGen
gnomAD
CA6849899
rs547953029
246 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA387072856
rs1185900054
247 V>L No ClinGen
TOPMed
rs951420252
CA244787436
249 S>L No ClinGen
TOPMed
gnomAD
CA6849896
rs756991659
249 S>P No ClinGen
ExAC
gnomAD
rs751207967
CA6849895
250 S>R No ClinGen
ExAC
CA387072812
rs1329010243
251 A>S No ClinGen
gnomAD
rs1329010243
CA387072814
251 A>T No ClinGen
gnomAD
rs146760413
CA6849892
252 C>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244787416
rs998780278
252 C>S No ClinGen
TOPMed
VAR_025152 253 D>E No UniProt
rs36124671
CA6849890
VAR_061218
253 D>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs36124671
CA6849891
253 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1452228986
CA387072794
254 P>S No ClinGen
TOPMed
rs536097747
CA6849889
256 V>F No ClinGen
1000Genomes
ExAC
gnomAD
rs141008238
CA244787342
257 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141008238
CA387072776
257 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849888
rs141008238
257 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849887
rs767771972
258 G>A No ClinGen
ExAC
gnomAD
CA244787314
rs915639443
259 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6849886
rs146499431
261 H>P No ClinGen
ESP
ExAC
gnomAD
CA387072755
rs146499431
261 H>R No ClinGen
ESP
ExAC
gnomAD
CA387072746
rs1386316596
262 I>R No ClinGen
gnomAD
rs1456515176
CA387072751
262 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 263 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1178527403
CA387072741
263 T>N No ClinGen
gnomAD
TCGA novel 265 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6849885
rs774687937
266 F>L No ClinGen
ExAC
gnomAD
rs1476181076
CA387072703
269 M>L No ClinGen
gnomAD
CA244787267
rs1034451973
270 N>S No ClinGen
Ensembl
CA6849882
rs763083142
271 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6849881
rs775571087
272 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs938461473
CA244787216
273 L>R No ClinGen
TOPMed
CA6849878
rs781107808
276 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs764246177 276 L>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA387072648
rs1364269214
277 V>L No ClinGen
TOPMed
gnomAD
CA387072650
rs1364269214
277 V>M No ClinGen
TOPMed
gnomAD
CA387072640
rs1434026592
278 Y>C No ClinGen
TOPMed
gnomAD
rs1434026592
CA387072641
278 Y>S No ClinGen
TOPMed
gnomAD
rs1338506934
CA387072615
281 S>* No ClinGen
gnomAD
CA387072605
rs1466487614
283 P>S No ClinGen
gnomAD
CA6849873
rs757909237
286 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs570835254
CA6849872
287 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 288 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA244787096
rs1009767386
290 N>D No ClinGen
TOPMed
gnomAD
CA387072558
rs1009767386
290 N>H No ClinGen
TOPMed
gnomAD
rs1184027518
CA387072547
291 K>R No ClinGen
TOPMed
gnomAD
rs1255927845
CA387072543
292 L>I No ClinGen
gnomAD
CA387072520
rs1555250013
295 C>G No ClinGen
Ensembl
rs778270960
CA6849870
299 P>H No ClinGen
ExAC
gnomAD
CA387072464
rs1449002872
301 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1304869659
CA387072451
302 P>A No ClinGen
TOPMed
TCGA novel 303 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372842748
CA387072427
304 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387072423
rs1310094464
304 H>P No ClinGen
TOPMed
rs372842748
CA6849869
304 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6849867
rs767970079
306 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs369360951
CA6849866
306 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387072372
rs1484358760
307 T>I No ClinGen
gnomAD
rs1301043567
CA387072343
309 R>M No ClinGen
gnomAD
CA6849864
rs145500404
310 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA244787039
rs774977934
311 E>Q No ClinGen
Ensembl
TCGA novel
rs1370612921
CA387072296
312 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA244787038
rs965885341
312 E>K No ClinGen
TOPMed
CA6849862
rs775771821
313 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 313 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1427416926
CA387072265
314 P>L No ClinGen
gnomAD
rs1031465222
CA244787024
315 I>V No ClinGen
TOPMed
gnomAD
rs373721601
CA6849861
316 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6849859
rs369836460
317 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6849856
rs772862696
318 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6849857
rs772862696
318 L>V No ClinGen
ExAC
gnomAD
rs747791852
CA6849854
319 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA244786994
rs778522723
320 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6849853
rs778522723
320 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754420151
CA6849852
320 R>H No ClinGen
ExAC
gnomAD
rs746414002
CA6849851
324 I>N No ClinGen
ExAC
gnomAD
rs1393847933
CA387072120
324 I>V No ClinGen
gnomAD
rs771624285
CA244786969
325 S>N No ClinGen
TOPMed
gnomAD
CA6849849
rs376788646
327 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1441774966
CA387072056
328 N>I No ClinGen
TOPMed
CA6849848
rs757703367
329 S>C No ClinGen
ExAC
CA6849847
rs751918427
329 S>T No ClinGen
ExAC
gnomAD
CA244786942
rs1012811553
336 G>R No ClinGen
TOPMed
gnomAD
CA6849846
rs764542423
337 Q>K No ClinGen
ExAC
gnomAD
CA387071918
rs1367010796
338 W>* No ClinGen
gnomAD
rs1457137809
CA387071830
342 I>T No ClinGen
gnomAD
CA6849845
rs530382742
342 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752832725
CA6849844
343 V>A No ClinGen
ExAC
gnomAD
rs1473852119
CA387071753
346 H>R No ClinGen
gnomAD

No associated diseases with Q9BXC0

1 regional properties for Q9BXC0

Type Name Position InterPro Accession
domain GPCR, rhodopsin-like, 7TM 58 - 425 IPR017452

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.

2 GO annotations of biological process

Name Definition
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
negative regulation of lipid catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.

119 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2YDN1 GPR161 G protein-coupled receptor 161 Bos taurus (Bovine) PR
Q0GBZ5 HCRTR1 Orexin/Hypocretin receptor type 1 Bos taurus (Bovine) PR
Q17QD8 GPR37L1 G-protein coupled receptor 37-like 1 Bos taurus (Bovine) PR
Q8SPN1 PROKR2 Prokineticin receptor 2 Bos taurus (Bovine) PR
P46626 ADRB3 Beta-3 adrenergic receptor Bos taurus (Bovine) PR
O46639 TRHR Thyrotropin-releasing hormone receptor Bos taurus (Bovine) PR
Q8SPN2 PROKR1 Prokineticin receptor 1 Bos taurus (Bovine) PR
B9VR26 CMLKR1 Chemerin-like receptor 1 Bos taurus (Bovine) PR
P18130 ADRA1A Alpha-1A adrenergic receptor Bos taurus (Bovine) PR
B4XF06 GPR39 G-protein coupled receptor 39 Bos taurus (Bovine) PR
O18913 OPN1LW Long-wave-sensitive opsin 1 Felis catus (Cat) (Felis silvestris catus) PR
P28683 PRA1 Green-sensitive opsin Gallus gallus (Chicken) PR
Q9N298 HTR1A 5-hydroxytryptamine receptor 1A Pan troglodytes (Chimpanzee) PR
P08099 Rh2 Opsin Rh2 Drosophila melanogaster (Fruit fly) PR
P06002 ninaE Opsin Rh1 Drosophila melanogaster (Fruit fly) PR
Q4LBB9 Octbeta2R Octopamine receptor beta-2R Drosophila melanogaster (Fruit fly) PR
Q8NFJ6 PROKR2 Prokineticin receptor 2 Homo sapiens (Human) PR
Q13585 GPR50 Melatonin-related receptor Homo sapiens (Human) PR
Q9BZJ6 GPR63 Probable G-protein coupled receptor 63 Homo sapiens (Human) PR
Q9H3N8 HRH4 Histamine H4 receptor Homo sapiens (Human) PR
P28336 NMBR Neuromedin-B receptor Homo sapiens (Human) PR
Q9Y5Y3 GPR45 Probable G-protein coupled receptor 45 Homo sapiens (Human) PR
P08913 ADRA2A Alpha-2A adrenergic receptor Homo sapiens (Human) PR
P41597 CCR2 C-C chemokine receptor type 2 Homo sapiens (Human) PR
P51681 CCR5 C-C chemokine receptor type 5 Homo sapiens (Human) PR
Q8TCW9 PROKR1 Prokineticin receptor 1 Homo sapiens (Human) PR
Q99788 CMKLR1 Chemerin-like receptor 1 Homo sapiens (Human) PR
P08908 HTR1A 5-hydroxytryptamine receptor 1A Homo sapiens (Human) PR
P30559 OXTR Oxytocin receptor Homo sapiens (Human) PR
P32239 CCKBR Gastrin/cholecystokinin type B receptor Homo sapiens (Human) PR
O60883 GPR37L1 G-protein coupled receptor 37-like 1 Homo sapiens (Human) PR
Q8TDU9 RXFP4 Relaxin-3 receptor 2 Homo sapiens (Human) PR
P04000 OPN1LW Long-wave-sensitive opsin 1 Homo sapiens (Human) PR
Q6U736 OPN5 Opsin-5 Homo sapiens (Human) PR
P34972 CNR2 Cannabinoid receptor 2 Homo sapiens (Human) PR
P24530 EDNRB Endothelin receptor type B Homo sapiens (Human) PR
P35348 ADRA1A Alpha-1A adrenergic receptor Homo sapiens (Human) PR
Q6W5P4 NPSR1 Neuropeptide S receptor Homo sapiens (Human) PR
O43613 HCRTR1 Orexin/Hypocretin receptor type 1 Homo sapiens (Human) PR
P61073 CXCR4 C-X-C chemokine receptor type 4 Homo sapiens (Human) PR
P30556 AGTR1 Type-1 angiotensin II receptor Homo sapiens (Human) PR
Q15761 NPY5R Neuropeptide Y receptor type 5 Homo sapiens (Human) PR
Q8N6U8 GPR161 G-protein coupled receptor 161 Homo sapiens (Human) PR
Q6DWJ6 GPR139 Probable G-protein coupled receptor 139 Homo sapiens (Human) PR
P21462 FPR1 fMet-Leu-Phe receptor Homo sapiens (Human) PR
P35414 APLNR Apelin receptor Homo sapiens (Human) PR
P46091 CMKLR2 Chemerin-like receptor 2 Homo sapiens (Human) PR
P32745 SSTR3 Somatostatin receptor type 3 Homo sapiens (Human) PR
P41439 FOLR3 Folate receptor gamma Homo sapiens (Human) PR
P19973 Lsp1 Lymphocyte-specific protein 1 Mus musculus (Mouse) PR
O54799 Nmbr Neuromedin-B receptor Mus musculus (Mouse) PR
Q64264 Htr1a 5-hydroxytryptamine receptor 1A Mus musculus (Mouse) PR
P51675 Ccr1 C-C chemokine receptor type 1 Mus musculus (Mouse) PR
Q5U431 Gpr39 G-protein coupled receptor 39 Mus musculus (Mouse) PR
Q99JG2 Gpr37l1 G-protein coupled receptor 37-like 1 Mus musculus (Mouse) PR
P97295 Npy2r Neuropeptide Y receptor type 2 Mus musculus (Mouse) PR
O08786 Cckar Cholecystokinin receptor type A Mus musculus (Mouse) PR
P56481 Cckbr Gastrin/cholecystokinin type B receptor Mus musculus (Mouse) PR
P30731 Gpr83 G-protein coupled receptor 83 Mus musculus (Mouse) PR
P97468 Cmklr1 Chemerin-like receptor 1 Mus musculus (Mouse) PR
P21761 Trhr Thyrotropin-releasing hormone receptor Mus musculus (Mouse) PR
Q5QD16 Taar3 Trace amine-associated receptor 3 Mus musculus (Mouse) PR
P97292 Hrh2 Histamine H2 receptor Mus musculus (Mouse) PR
Q9EQQ3 Gpr63 Probable G-protein coupled receptor 63 Mus musculus (Mouse) PR
Q924H0 Npffr2 Neuropeptide FF receptor 2 Mus musculus (Mouse) PR
P34971 Adrb1 Beta-1 adrenergic receptor Mus musculus (Mouse) PR
Q91ZY2 Hrh4 Histamine H4 receptor Mus musculus (Mouse) PR
O88416 Gpr33 Probable G-protein coupled receptor 33 Mus musculus (Mouse) PR
Q8K087 Cmklr2 Chemerin-like receptor 2 Mus musculus (Mouse) PR
P70658 Cxcr4 C-X-C chemokine receptor type 4 Mus musculus (Mouse) PR
Q9WV08 Aplnr Apelin receptor Mus musculus (Mouse) PR
P97718 Adra1a Alpha-1A adrenergic receptor Mus musculus (Mouse) PR
Q8BZP8 Npsr1 Neuropeptide S receptor Mus musculus (Mouse) PR
Q8K458 Prokr2 Prokineticin receptor 2 Mus musculus (Mouse) PR
P58308 Hcrtr2 Orexin receptor type 2 Mus musculus (Mouse) PR
Q7TQP3 Gpr119 Glucose-dependent insulinotropic receptor Mus musculus (Mouse) PR
Q8BGE9 Rxfp3 Relaxin-3 receptor 1 Mus musculus (Mouse) PR
Q6VZZ7 Opn5 Opsin-5 Mus musculus (Mouse) PR
Q8CIM5 Gpr84 G-protein coupled receptor 84 Mus musculus (Mouse) PR
P25962 Adrb3 Beta-3 adrenergic receptor Mus musculus (Mouse) PR
Q80UC8 Gpr139 Probable G-protein coupled receptor 139 Mus musculus (Mouse) PR
P0C5I1 Gpr25 Probable G-protein coupled receptor 25 Mus musculus (Mouse) PR
P47936 Cnr2 Cannabinoid receptor 2 Mus musculus (Mouse) PR
Q5QD13 Taar6 Trace amine-associated receptor 6 Mus musculus (Mouse) PR
P35846 Folr1 Folate receptor alpha Mus musculus (Mouse) PR
P58307 Hcrtr1 Orexin/Hypocretin receptor type 1 Mus musculus (Mouse) PR
Q9EQQ4 Gpr45 Probable G-protein coupled receptor 45 Mus musculus (Mouse) PR
B2RPY5 Gpr161 G-protein coupled receptor 161 Mus musculus (Mouse) PR
Q8C131 Hcar1 Hydroxycarboxylic acid receptor 1 Mus musculus (Mouse) PR
Q764M9 CXCR4 C-X-C chemokine receptor type 4 Sus scrofa (Pig) PR
Q9EQD2 Npffr2 Neuropeptide FF receptor 2 Rattus norvegicus (Rat) PR
O08565 Cxcr4 C-X-C chemokine receptor type 4 Rattus norvegicus (Rat) PR
Q01717 Trhr Thyrotropin-releasing hormone receptor Rattus norvegicus (Rat) PR
P30936 Sstr3 Somatostatin receptor type 3 Rattus norvegicus (Rat) PR
Q9JHG3 Aplnr Apelin receptor Rattus norvegicus (Rat) PR
P43140 Adra1a Alpha-1A adrenergic receptor Rattus norvegicus (Rat) PR
P19327 Htr1a 5-hydroxytryptamine receptor 1A Rattus norvegicus (Rat) PR
P56719 Hcrtr2 Orexin receptor type 2 Rattus norvegicus (Rat) PR
P28564 Htr1b 5-hydroxytryptamine receptor 1B Rattus norvegicus (Rat) PR
P56718 Hcrtr1 Orexin/Hypocretin receptor type 1 Rattus norvegicus (Rat) PR
P28647 Adora3 Adenosine receptor A3 Rattus norvegicus (Rat) PR
P25102 Hrh2 Histamine H2 receptor Rattus norvegicus (Rat) PR
P23944 Adra1d Alpha-1D adrenergic receptor Rattus norvegicus (Rat) PR
Q8R415 Prokr2 Prokineticin receptor 2 Rattus norvegicus (Rat) PR
Q5QD24 Taar3 Trace amine-associated receptor 3 Rattus norvegicus (Rat) PR
P0C0W8 Gpr139 Probable G-protein coupled receptor 139 Rattus norvegicus (Rat) PR
P35370 Oprl1 Nociceptin receptor Rattus norvegicus (Rat) PR
P46090 Cmklr2 Chemerin-like receptor 2 Rattus norvegicus (Rat) PR
O97664 CMKLR2 Chemerin-like receptor 2 Macaca mulatta (Rhesus macaque) PR
O97666 APLNR Apelin receptor Macaca mulatta (Rhesus macaque) PR
Q56H79 NPSR1 Neuropeptide S receptor Macaca mulatta (Rhesus macaque) PR
Q18904 npr-8 Probable G-protein coupled receptor npr-8 Caenorhabditis elegans PR
Q09388 gar-2 Muscarinic acetylcholine receptor gar-2 Caenorhabditis elegans PR
B3DM66 gpr161 G-protein coupled receptor 161 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q9W6A6 opn1mw4 Green-sensitive opsin-4 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q9W6A5 opn1mw1 Green-sensitive opsin-1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYM7 opn1mw3 Green-sensitive opsin-3 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q8AYN0 opn1lw2 Red-sensitive opsin-2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q90X46 gpr161 G-protein coupled receptor 161 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MYNGSCCRIE GDTISQVMPP LLIVAFVLGA LGNGVALCGF CFHMKTWKPS TVYLFNLAVA
70 80 90 100 110 120
DFLLMICLPF RTDYYLRRRH WAFGDIPCRV GLFTLAMNRA GSIVFLTVVA ADRYFKVVHP
130 140 150 160 170 180
HHAVNTISTR VAAGIVCTLW ALVILGTVYL LLENHLCVQE TAVSCESFIM ESANGWHDIM
190 200 210 220 230 240
FQLEFFMPLG IILFCSFKIV WSLRRRQQLA RQARMKKATR FIMVVAIVFI TCYLPSVSAR
250 260 270 280 290 300
LYFLWTVPSS ACDPSVHGAL HITLSFTYMN SMLDPLVYYF SSPSFPKFYN KLKICSLKPK
310 320 330 340
QPGHSKTQRP EEMPISNLGR RSCISVANSF QSQSDGQWDP HIVEWH